RNF113A

Chr XX-linked

ring finger protein 113A

Also known as: Cwc24, RNF113, TTD5, ZNF183

NCBI Gene: 7737ENSG00000125352UniProt: O15541OMIM: 300951

RNF113A encodes an E3 ubiquitin ligase that is required for pre-mRNA splicing as a component of the spliceosome and plays a role in DNA repair through synthesis of polyubiquitin chains. Mutations cause X-linked trichothiodystrophy 5, nonphotosensitive, which affects hair and skin development. The gene is highly constrained against loss-of-function variants (pLI = 0.89, LOEUF = 0.42), indicating intolerance to protein-truncating mutations.

OMIMResearchSummary from RefSeq, OMIM, UniProt
LOFmechanismX-linkedLOEUF 0.421 OMIM phenotype
Clinical Summary— RNF113A
⚡
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.89) — some intolerance to loss-of-function variants.
📋
ClinVar Variants
68 unique Pathogenic / Likely Pathogenic· 109 VUS of 205 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint
0.42LOEUF
pLI 0.889
Z-score 2.47
OE 0.00 (0.00–0.42)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
1.77Z-score
OE missense 0.57 (0.47–0.69)
77 obs / 134.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.00 (0.00–0.42)
0≤0.351.4
Missense OE0.57 (0.47–0.69)
0≤0.61.4
Synonymous OE0.87
0≤1.21.6
LoF obs/exp: 0 / 7.1Missense obs/exp: 77 / 134.8Syn Z: 0.72

ClinVar Variant Classifications

205 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic65
Likely Pathogenic3
VUS109
Likely Benign21
Benign4
Conflicting3
65
Pathogenic
3
Likely Pathogenic
109
VUS
21
Likely Benign
4
Benign
3
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
1
0
64
0
65
Likely Pathogenic
2
1
0
0
3
VUS
1
79
12
17
109
Likely Benign
0
4
0
17
21
Benign
0
1
2
1
4
Conflicting
—3
Total4857835205

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

RNF113A · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients